NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)
|
rs201280372
|
0.00140
|
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)
|
rs147714487
|
0.00118
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
NM_001363.5(DKC1):c.1293G>A (p.Val431=)
|
rs138065506
|
0.00060
|
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
|
rs199422322
|
0.00058
|
NM_025099.6(CTC1):c.3221+16G>A
|
rs372958727
|
0.00052
|
NM_025099.6(CTC1):c.2522G>A (p.Arg841His)
|
rs780358670
|
0.00049
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
NM_025099.6(CTC1):c.1140G>T (p.Gly380=)
|
rs201392995
|
0.00046
|
NM_025099.6(CTC1):c.2508C>G (p.Ser836=)
|
rs146214808
|
0.00045
|
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)
|
rs374985738
|
0.00036
|
NM_025099.6(CTC1):c.197+16G>A
|
rs370799756
|
0.00036
|
NM_001363.5(DKC1):c.1317C>T (p.Ala439=)
|
rs143207180
|
0.00035
|
NM_017838.4(NHP2):c.369C>T (p.Pro123=)
|
rs375285426
|
0.00034
|
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met)
|
rs371036203
|
0.00034
|
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp)
|
rs199698527
|
0.00032
|
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)
|
rs371046424
|
0.00032
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)
|
rs201203345
|
0.00031
|
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)
|
rs192423622
|
0.00030
|
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)
|
rs376216833
|
0.00028
|
NM_017838.4(NHP2):c.160+18G>T
|
rs202078932
|
0.00027
|
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr)
|
rs374126761
|
0.00027
|
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)
|
rs201083863
|
0.00024
|
NM_025099.6(CTC1):c.1530C>T (p.Thr510=)
|
rs376217684
|
0.00024
|
NM_025099.6(CTC1):c.34-9T>G
|
rs201195157
|
0.00024
|
NM_025099.6(CTC1):c.862G>A (p.Val288Met)
|
rs201553464
|
0.00024
|
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)
|
rs369209127
|
0.00022
|
NM_025099.6(CTC1):c.3515-10C>T
|
rs200225342
|
0.00022
|
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)
|
rs201273283
|
0.00021
|
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala)
|
rs199989447
|
0.00019
|
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)
|
rs373530008
|
0.00019
|
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val)
|
rs183966301
|
0.00019
|
NM_025099.6(CTC1):c.3567C>T (p.His1189=)
|
rs374942931
|
0.00019
|
NM_025099.6(CTC1):c.597G>A (p.Thr199=)
|
rs373023392
|
0.00019
|
NM_025099.6(CTC1):c.1479A>G (p.Gln493=)
|
rs188654013
|
0.00018
|
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala)
|
rs530949904
|
0.00018
|
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=)
|
rs945189616
|
0.00016
|
NM_001363.5(DKC1):c.1059G>A (p.Ala353=)
|
rs375274293
|
0.00015
|
NM_001363.5(DKC1):c.1362A>G (p.Glu454=)
|
rs782342369
|
0.00015
|
NM_025099.6(CTC1):c.3246C>T (p.Ala1082=)
|
rs201124470
|
0.00014
|
NM_001099274.3(TINF2):c.520C>T (p.Leu174=)
|
rs374116388
|
0.00013
|
NM_001363.5(DKC1):c.399C>T (p.Ile133=)
|
rs140714103
|
0.00013
|
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys)
|
rs200150979
|
0.00013
|
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=)
|
rs200990844
|
0.00011
|
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)
|
rs376632263
|
0.00011
|
NM_017838.4(NHP2):c.72C>T (p.Tyr24=)
|
rs202221169
|
0.00011
|
NM_025099.6(CTC1):c.3600T>C (p.Ser1200=)
|
rs761178911
|
0.00011
|
NM_001363.5(DKC1):c.600C>T (p.Tyr200=)
|
rs781789313
|
0.00010
|
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)
|
rs200137992
|
0.00010
|
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn)
|
rs568980956
|
0.00009
|
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)
|
rs775779700
|
0.00009
|
NM_001099274.3(TINF2):c.1302C>T (p.His434=)
|
rs568909774
|
0.00008
|
NM_001363.5(DKC1):c.85-4G>A
|
rs782787521
|
0.00008
|
NM_025099.6(CTC1):c.1946-6C>T
|
rs369285521
|
0.00008
|
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)
|
rs764616648
|
0.00008
|
NM_001363.5(DKC1):c.1155+20G>A
|
rs782743841
|
0.00007
|
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala)
|
rs782622660
|
0.00007
|
NM_001363.5(DKC1):c.582C>G (p.Leu194=)
|
rs782546233
|
0.00007
|
NM_025099.6(CTC1):c.2476-7C>T
|
rs189539795
|
0.00007
|
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=)
|
rs199597631
|
0.00006
|
NM_001363.5(DKC1):c.1036+8G>A
|
rs782446632
|
0.00006
|
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)
|
rs369066088
|
0.00006
|
NM_017838.4(NHP2):c.230+17C>T
|
rs766892858
|
0.00006
|
NM_025099.6(CTC1):c.1002C>T (p.Leu334=)
|
rs369276308
|
0.00006
|
NM_025099.6(CTC1):c.1366C>T (p.Leu456=)
|
rs529158574
|
0.00006
|
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
|
rs558802130
|
0.00006
|
NM_025099.6(CTC1):c.843T>C (p.Tyr281=)
|
rs367935180
|
0.00006
|
NM_001363.5(DKC1):c.1074C>T (p.Cys358=)
|
rs781915787
|
0.00005
|
NM_001363.5(DKC1):c.1155+8G>A
|
rs781880461
|
0.00005
|
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)
|
rs782343800
|
0.00005
|
NM_001363.5(DKC1):c.267A>C (p.Thr89=)
|
rs782604353
|
0.00005
|
NM_001363.5(DKC1):c.847C>A (p.Arg283=)
|
rs782084631
|
0.00005
|
NM_017838.4(NHP2):c.105G>A (p.Ala35=)
|
rs373176167
|
0.00005
|
NM_017838.4(NHP2):c.417C>T (p.Tyr139=)
|
rs567317314
|
0.00005
|
NM_025099.6(CTC1):c.3426C>T (p.Leu1142=)
|
rs745512137
|
0.00005
|
NM_025099.6(CTC1):c.648-9C>T
|
rs779778738
|
0.00005
|
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)
|
rs779819186
|
0.00004
|
NM_001099274.3(TINF2):c.315G>A (p.Arg105=)
|
rs773958161
|
0.00004
|
NM_001099274.3(TINF2):c.690C>G (p.Pro230=)
|
rs764260132
|
0.00004
|
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met)
|
rs552794694
|
0.00004
|
NM_001099274.3(TINF2):c.819C>T (p.Ala273=)
|
rs376845893
|
0.00004
|
NM_001363.5(DKC1):c.1339-5C>T
|
rs781901933
|
0.00004
|
NM_001363.5(DKC1):c.263+17G>A
|
rs371006539
|
0.00004
|
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)
|
rs782010351
|
0.00004
|
NM_025099.6(CTC1):c.1107C>T (p.Pro369=)
|
rs576049782
|
0.00004
|
NM_025099.6(CTC1):c.1293T>C (p.Leu431=)
|
rs764709117
|
0.00004
|
NM_025099.6(CTC1):c.1359C>T (p.Tyr453=)
|
rs371189165
|
0.00004
|
NM_025099.6(CTC1):c.1542A>G (p.Leu514=)
|
rs369802087
|
0.00004
|
NM_025099.6(CTC1):c.197+13G>A
|
rs377444887
|
0.00004
|
NM_025099.6(CTC1):c.2061-6C>T
|
rs370503002
|
0.00004
|
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser)
|
rs771475755
|
0.00004
|
NM_025099.6(CTC1):c.258G>A (p.Ser86=)
|
rs369789111
|
0.00004
|
NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe)
|
rs373660155
|
0.00004
|
NM_025099.6(CTC1):c.3222-4A>G
|
rs562479062
|
0.00004
|
NM_025099.6(CTC1):c.3514+18G>A
|
rs770137845
|
0.00004
|
NM_025099.6(CTC1):c.630C>G (p.Ser210=)
|
rs750601480
|
0.00004
|
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg)
|
rs763867083
|
0.00003
|
NM_001099274.3(TINF2):c.1299C>G (p.Gly433=)
|
rs755970077
|
0.00003
|
NM_001099274.3(TINF2):c.159C>T (p.His53=)
|
rs370875792
|
0.00003
|
NM_001099274.3(TINF2):c.210C>T (p.Ile70=)
|
rs749135301
|
0.00003
|
NM_001099274.3(TINF2):c.504G>A (p.Gln168=)
|
rs764829839
|
0.00003
|
NM_001099274.3(TINF2):c.51G>C (p.Ala17=)
|
rs757222975
|
0.00003
|
NM_001099274.3(TINF2):c.912G>A (p.Glu304=)
|
rs776136324
|
0.00003
|
NM_001363.5(DKC1):c.1305G>A (p.Pro435=)
|
rs189466923
|
0.00003
|
NM_001363.5(DKC1):c.1503G>A (p.Lys501=)
|
rs782072048
|
0.00003
|
NM_001363.5(DKC1):c.172-13C>T
|
rs782236324
|
0.00003
|
NM_001363.5(DKC1):c.357G>A (p.Gly119=)
|
rs1161452912
|
0.00003
|
NM_001363.5(DKC1):c.487A>G (p.Ile163Val)
|
rs782159247
|
0.00003
|
NM_001363.5(DKC1):c.85-5C>T
|
rs782381308
|
0.00003
|
NM_001363.5(DKC1):c.93A>G (p.Gln31=)
|
rs782094431
|
0.00003
|
NM_001363.5(DKC1):c.993G>A (p.Gln331=)
|
rs1407582382
|
0.00003
|
NM_017838.4(NHP2):c.336+12G>A
|
rs202050768
|
0.00003
|
NM_025099.6(CTC1):c.1078-14C>T
|
rs778409864
|
0.00003
|
NM_025099.6(CTC1):c.1284C>T (p.Ala428=)
|
rs751503167
|
0.00003
|
NM_025099.6(CTC1):c.1344C>T (p.Tyr448=)
|
rs758414171
|
0.00003
|
NM_025099.6(CTC1):c.2049G>A (p.Lys683=)
|
rs1224287906
|
0.00003
|
NM_025099.6(CTC1):c.2060+8C>T
|
rs774720707
|
0.00003
|
NM_025099.6(CTC1):c.2244C>T (p.Val748=)
|
rs758516017
|
0.00003
|
NM_025099.6(CTC1):c.2352C>T (p.Pro784=)
|
rs372436060
|
0.00003
|
NM_025099.6(CTC1):c.2370C>T (p.Asp790=)
|
rs765241138
|
0.00003
|
NM_025099.6(CTC1):c.2385+19G>A
|
rs766195246
|
0.00003
|
NM_025099.6(CTC1):c.24C>T (p.Val8=)
|
rs749818659
|
0.00003
|
NM_025099.6(CTC1):c.2670-7C>T
|
rs750034989
|
0.00003
|
NM_025099.6(CTC1):c.2721A>C (p.Leu907=)
|
rs776568637
|
0.00003
|
NM_025099.6(CTC1):c.2799C>A (p.Val933=)
|
rs756487472
|
0.00003
|
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)
|
rs760547081
|
0.00003
|
NM_025099.6(CTC1):c.647+16A>G
|
rs761287304
|
0.00003
|
NM_025099.6(CTC1):c.6G>A (p.Ala2=)
|
rs777656768
|
0.00003
|
NM_001099274.3(TINF2):c.1130-10C>T
|
rs762697610
|
0.00002
|
NM_001099274.3(TINF2):c.399+12T>C
|
rs1261166783
|
0.00002
|
NM_001099274.3(TINF2):c.411A>G (p.Gln137=)
|
rs1180442127
|
0.00002
|
NM_001099274.3(TINF2):c.507+14A>G
|
rs888526948
|
0.00002
|
NM_001099274.3(TINF2):c.861G>C (p.Leu287=)
|
rs770236773
|
0.00002
|
NM_001099274.3(TINF2):c.879C>T (p.Leu293=)
|
rs1475173024
|
0.00002
|
NM_001099274.3(TINF2):c.960A>C (p.Thr320=)
|
rs1002974518
|
0.00002
|
NM_001363.5(DKC1):c.1206G>A (p.Gly402=)
|
rs199803984
|
0.00002
|
NM_001363.5(DKC1):c.1335G>A (p.Ala445=)
|
rs782765291
|
0.00002
|
NM_001363.5(DKC1):c.1338+13C>T
|
rs781802524
|
0.00002
|
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp)
|
rs1557265675
|
0.00002
|
NM_001363.5(DKC1):c.1476+20G>A
|
rs782675825
|
0.00002
|
NM_001363.5(DKC1):c.975C>T (p.Asp325=)
|
rs374103494
|
0.00002
|
NM_017838.4(NHP2):c.112C>T (p.Leu38=)
|
rs925125777
|
0.00002
|
NM_017838.4(NHP2):c.160+8G>A
|
rs777793268
|
0.00002
|
NM_017838.4(NHP2):c.195A>G (p.Lys65=)
|
rs543057099
|
0.00002
|
NM_025099.6(CTC1):c.1398C>G (p.Leu466=)
|
rs777305874
|
0.00002
|
NM_025099.6(CTC1):c.1945+8G>A
|
rs746083383
|
0.00002
|
NM_025099.6(CTC1):c.198-10C>T
|
rs764516700
|
0.00002
|
NM_025099.6(CTC1):c.2476-6G>A
|
rs768967446
|
0.00002
|
NM_025099.6(CTC1):c.2683T>C (p.Leu895=)
|
rs764648488
|
0.00002
|
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=)
|
rs556097361
|
0.00002
|
NM_025099.6(CTC1):c.3515-9C>T
|
rs1225599531
|
0.00002
|
NM_025099.6(CTC1):c.363G>A (p.Ser121=)
|
rs770555372
|
0.00002
|
NM_025099.6(CTC1):c.390C>T (p.Asn130=)
|
rs559790131
|
0.00002
|
NM_025099.6(CTC1):c.591C>T (p.Pro197=)
|
rs538242855
|
0.00002
|
NM_025099.6(CTC1):c.793-17G>A
|
rs751885616
|
0.00002
|
NM_001099274.3(TINF2):c.1032A>G (p.Pro344=)
|
rs1295609085
|
0.00001
|
NM_001099274.3(TINF2):c.1155C>T (p.Ser385=)
|
rs948013496
|
0.00001
|
NM_001099274.3(TINF2):c.1222-5T>G
|
rs763885098
|
0.00001
|
NM_001099274.3(TINF2):c.129T>C (p.Ala43=)
|
rs1488023738
|
0.00001
|
NM_001099274.3(TINF2):c.1305T>C (p.Gly435=)
|
rs750447210
|
0.00001
|
NM_001099274.3(TINF2):c.1332T>C (p.Cys444=)
|
rs1414894689
|
0.00001
|
NM_001099274.3(TINF2):c.141C>T (p.Gly47=)
|
rs1351749746
|
0.00001
|
NM_001099274.3(TINF2):c.198G>A (p.Val66=)
|
rs1374640214
|
0.00001
|
NM_001099274.3(TINF2):c.400-4G>A
|
rs1566368389
|
0.00001
|
NM_001099274.3(TINF2):c.45C>T (p.Ala15=)
|
rs750285418
|
0.00001
|
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=)
|
rs778034325
|
0.00001
|
NM_001099274.3(TINF2):c.508-19C>T
|
rs750306834
|
0.00001
|
NM_001099274.3(TINF2):c.684C>T (p.His228=)
|
rs370555134
|
0.00001
|
NM_001099274.3(TINF2):c.69G>A (p.Val23=)
|
rs1280950659
|
0.00001
|
NM_001099274.3(TINF2):c.759A>G (p.Leu253=)
|
rs1456646494
|
0.00001
|
NM_001099274.3(TINF2):c.765C>A (p.Gly255=)
|
rs1171794268
|
0.00001
|
NM_001099274.3(TINF2):c.783C>A (p.Ala261=)
|
rs1468911267
|
0.00001
|
NM_001099274.3(TINF2):c.930G>A (p.Ala310=)
|
rs778877023
|
0.00001
|
NM_001363.5(DKC1):c.1155+19C>G
|
rs782728035
|
0.00001
|
NM_001363.5(DKC1):c.1156-7C>T
|
rs1397887971
|
0.00001
|
NM_001363.5(DKC1):c.1281G>A (p.Val427=)
|
rs781964348
|
0.00001
|
NM_001363.5(DKC1):c.1455C>T (p.Ser485=)
|
rs782136109
|
0.00001
|
NM_001363.5(DKC1):c.1476+13A>G
|
rs781810616
|
0.00001
|
NM_001363.5(DKC1):c.1500G>A (p.Lys500=)
|
rs782551669
|
0.00001
|
NM_001363.5(DKC1):c.1509G>A (p.Lys503=)
|
rs782703327
|
0.00001
|
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe)
|
rs782491403
|
0.00001
|
NM_001363.5(DKC1):c.262A>C (p.Arg88=)
|
rs782317228
|
0.00001
|
NM_001363.5(DKC1):c.263+16A>G
|
rs782490890
|
0.00001
|
NM_001363.5(DKC1):c.264-8C>A
|
rs1557264149
|
0.00001
|
NM_001363.5(DKC1):c.36A>G (p.Lys12=)
|
rs781936419
|
0.00001
|
NM_001363.5(DKC1):c.39T>C (p.His13=)
|
rs782044075
|
0.00001
|
NM_001363.5(DKC1):c.449-10C>G
|
rs1167594740
|
0.00001
|
NM_001363.5(DKC1):c.468T>A (p.Ile156=)
|
rs782504051
|
0.00001
|
NM_001363.5(DKC1):c.519A>G (p.Leu173=)
|
rs1466942555
|
0.00001
|
NM_001363.5(DKC1):c.538T>C (p.Leu180=)
|
rs1557264297
|
0.00001
|
NM_001363.5(DKC1):c.912T>C (p.Ser304=)
|
rs782525899
|
0.00001
|
NM_001363.5(DKC1):c.915+9C>T
|
rs1557264657
|
0.00001
|
NM_001363.5(DKC1):c.916-6C>G
|
rs782345716
|
0.00001
|
NM_001363.5(DKC1):c.96C>T (p.His32=)
|
rs1557264045
|
0.00001
|
NM_017838.4(NHP2):c.160+9G>A
|
rs756638436
|
0.00001
|
NM_017838.4(NHP2):c.230+19C>G
|
rs1244247196
|
0.00001
|
NM_025099.6(CTC1):c.1032G>A (p.Lys344=)
|
rs376394434
|
0.00001
|
NM_025099.6(CTC1):c.1047T>C (p.Leu349=)
|
rs1161961298
|
0.00001
|
NM_025099.6(CTC1):c.105T>C (p.Asn35=)
|
rs775601506
|
0.00001
|
NM_025099.6(CTC1):c.1068A>G (p.Leu356=)
|
rs756221416
|
0.00001
|
NM_025099.6(CTC1):c.1078-13G>A
|
rs200325111
|
0.00001
|
NM_025099.6(CTC1):c.1092C>T (p.Gly364=)
|
rs761668228
|
0.00001
|
NM_025099.6(CTC1):c.1155C>T (p.Tyr385=)
|
rs1170351542
|
0.00001
|
NM_025099.6(CTC1):c.1206+7G>C
|
rs949969553
|
0.00001
|
NM_025099.6(CTC1):c.1207-7C>A
|
rs746123381
|
0.00001
|
NM_025099.6(CTC1):c.1242G>A (p.Gly414=)
|
rs778096377
|
0.00001
|
NM_025099.6(CTC1):c.12C>G (p.Gly4=)
|
rs758287945
|
0.00001
|
NM_025099.6(CTC1):c.1350C>T (p.Ala450=)
|
rs763760200
|
0.00001
|
NM_025099.6(CTC1):c.1467C>T (p.His489=)
|
rs755429023
|
0.00001
|
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)
|
rs761750183
|
0.00001
|
NM_025099.6(CTC1):c.1515A>G (p.Gln505=)
|
rs759341353
|
0.00001
|
NM_025099.6(CTC1):c.1617+8G>A
|
rs200232133
|
0.00001
|
NM_025099.6(CTC1):c.1618-14T>C
|
rs767597943
|
0.00001
|
NM_025099.6(CTC1):c.1620C>T (p.Tyr540=)
|
rs765073204
|
0.00001
|
NM_025099.6(CTC1):c.1635T>C (p.Thr545=)
|
rs768300804
|
0.00001
|
NM_025099.6(CTC1):c.1650C>T (p.Pro550=)
|
rs368449753
|
0.00001
|
NM_025099.6(CTC1):c.1710G>A (p.Lys570=)
|
rs376757390
|
0.00001
|
NM_025099.6(CTC1):c.1743G>A (p.Leu581=)
|
rs1256128659
|
0.00001
|
NM_025099.6(CTC1):c.1794G>A (p.Leu598=)
|
rs1171819624
|
0.00001
|
NM_025099.6(CTC1):c.183G>A (p.Leu61=)
|
rs1273538880
|
0.00001
|
NM_025099.6(CTC1):c.1899G>C (p.Leu633=)
|
rs983492190
|
0.00001
|
NM_025099.6(CTC1):c.1980C>T (p.Ile660=)
|
rs929139383
|
0.00001
|
NM_025099.6(CTC1):c.204C>T (p.Val68=)
|
rs767705861
|
0.00001
|
NM_025099.6(CTC1):c.2061-7C>T
|
rs766368157
|
0.00001
|
NM_025099.6(CTC1):c.2121T>G (p.Leu707=)
|
rs899017902
|
0.00001
|
NM_025099.6(CTC1):c.2250A>G (p.Pro750=)
|
rs200036724
|
0.00001
|
NM_025099.6(CTC1):c.2277C>T (p.Pro759=)
|
rs1264286773
|
0.00001
|
NM_025099.6(CTC1):c.2376T>C (p.Asn792=)
|
rs1206581935
|
0.00001
|
NM_025099.6(CTC1):c.2385+18G>A
|
rs1449666905
|
0.00001
|
NM_025099.6(CTC1):c.2386-10A>G
|
rs746382653
|
0.00001
|
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)
|
rs200759730
|
0.00001
|
NM_025099.6(CTC1):c.2476-15C>G
|
rs748214993
|
0.00001
|
NM_025099.6(CTC1):c.2476-20G>A
|
rs374177499
|
0.00001
|
NM_025099.6(CTC1):c.2652C>T (p.Thr884=)
|
rs764276520
|
0.00001
|
NM_025099.6(CTC1):c.2697C>T (p.Ser899=)
|
rs551850837
|
0.00001
|
NM_025099.6(CTC1):c.2712A>G (p.Ser904=)
|
rs1597376076
|
0.00001
|
NM_025099.6(CTC1):c.2730C>T (p.Pro910=)
|
rs1302556489
|
0.00001
|
NM_025099.6(CTC1):c.2739G>A (p.Ala913=)
|
rs745541560
|
0.00001
|
NM_025099.6(CTC1):c.2759-18C>T
|
rs751836178
|
0.00001
|
NM_025099.6(CTC1):c.2766G>A (p.Thr922=)
|
rs775342727
|
0.00001
|
NM_025099.6(CTC1):c.2934-16C>T
|
rs759449159
|
0.00001
|
NM_025099.6(CTC1):c.3003C>T (p.Thr1001=)
|
rs1228344704
|
0.00001
|
NM_025099.6(CTC1):c.306T>C (p.Asn102=)
|
rs1469406841
|
0.00001
|
NM_025099.6(CTC1):c.30C>T (p.Ser10=)
|
rs200258559
|
0.00001
|
NM_025099.6(CTC1):c.3156+13A>C
|
rs554186531
|
0.00001
|
NM_025099.6(CTC1):c.3156+18C>T
|
rs1987003651
|
0.00001
|
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)
|
rs777357385
|
0.00001
|
NM_025099.6(CTC1):c.3330C>T (p.Phe1110=)
|
rs779335414
|
0.00001
|
NM_025099.6(CTC1):c.3514+14C>T
|
rs551437595
|
0.00001
|
NM_025099.6(CTC1):c.3564T>C (p.Thr1188=)
|
rs750119408
|
0.00001
|
NM_025099.6(CTC1):c.435+12G>A
|
rs1246653256
|
0.00001
|
NM_025099.6(CTC1):c.534C>T (p.His178=)
|
rs1251648065
|
0.00001
|
NM_025099.6(CTC1):c.647+12C>G
|
rs750369449
|
0.00001
|
NM_025099.6(CTC1):c.744T>G (p.Ser248=)
|
rs1219363352
|
0.00001
|
NM_025099.6(CTC1):c.786C>T (p.Ile262=)
|
rs781453163
|
0.00001
|
NM_025099.6(CTC1):c.918T>C (p.Arg306=)
|
rs770766250
|
0.00001
|
NM_025099.6(CTC1):c.99G>A (p.Glu33=)
|
rs201091226
|
0.00001
|
NM_001099274.3(TINF2):c.1035T>C (p.Val345=)
|
|
|
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)
|
|
|
NM_001099274.3(TINF2):c.1061+14A>G
|
rs1040503982
|
|
NM_001099274.3(TINF2):c.1061+8_1061+9del
|
|
|
NM_001099274.3(TINF2):c.1062-14_1062-11del
|
rs2138996774
|
|
NM_001099274.3(TINF2):c.1062-19_1062-18del
|
|
|
NM_001099274.3(TINF2):c.1062-4T>G
|
rs769661599
|
|
NM_001099274.3(TINF2):c.1130-7C>T
|
|
|
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)
|
|
|
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=)
|
rs2040535359
|
|
NM_001099274.3(TINF2):c.120T>C (p.Ser40=)
|
|
|
NM_001099274.3(TINF2):c.1221+11del
|
|
|
NM_001099274.3(TINF2):c.1221+14A>C
|
rs776525717
|
|
NM_001099274.3(TINF2):c.1222-11del
|
rs746206409
|
|
NM_001099274.3(TINF2):c.1222-4A>T
|
rs2138994887
|
|
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)
|
|
|
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)
|
|
|
NM_001099274.3(TINF2):c.1269C>A (p.Pro423=)
|
rs777077289
|
|
NM_001099274.3(TINF2):c.1269C>T (p.Pro423=)
|
rs777077289
|
|
NM_001099274.3(TINF2):c.126C>T (p.Arg42=)
|
|
|
NM_001099274.3(TINF2):c.1281A>G (p.Glu427=)
|
rs2040528048
|
|
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)
|
|
|
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=)
|
rs780647966
|
|
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=)
|
rs201083863
|
|
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)
|
|
|
NM_001099274.3(TINF2):c.138T>C (p.Pro46=)
|
|
|
NM_001099274.3(TINF2):c.192+13G>A
|
rs1566369386
|
|
NM_001099274.3(TINF2):c.192+9G>A
|
|
|
NM_001099274.3(TINF2):c.193-7C>T
|
|
|
NM_001099274.3(TINF2):c.240G>A (p.Leu80=)
|
|
|
NM_001099274.3(TINF2):c.240G>C (p.Leu80=)
|
|
|
NM_001099274.3(TINF2):c.27C>T (p.Pro9=)
|
|
|
NM_001099274.3(TINF2):c.294G>A (p.Lys98=)
|
rs1594555123
|
|
NM_001099274.3(TINF2):c.297+10C>T
|
rs775877509
|
|
NM_001099274.3(TINF2):c.297+13C>T
|
|
|
NM_001099274.3(TINF2):c.297+18C>A
|
|
|
NM_001099274.3(TINF2):c.297+18C>G
|
|
|
NM_001099274.3(TINF2):c.298-10T>A
|
rs1317116989
|
|
NM_001099274.3(TINF2):c.298-15C>T
|
|
|
NM_001099274.3(TINF2):c.298-19T>C
|
|
|
NM_001099274.3(TINF2):c.378G>A (p.Val126=)
|
|
|
NM_001099274.3(TINF2):c.393G>A (p.Lys131=)
|
rs1373380506
|
|
NM_001099274.3(TINF2):c.394C>T (p.Leu132=)
|
|
|
NM_001099274.3(TINF2):c.399+9G>C
|
|
|
NM_001099274.3(TINF2):c.400-10C>T
|
rs2139001198
|
|
NM_001099274.3(TINF2):c.400-11C>G
|
|
|
NM_001099274.3(TINF2):c.400-12C>T
|
|
|
NM_001099274.3(TINF2):c.400-17A>C
|
rs1182153400
|
|
NM_001099274.3(TINF2):c.400-5del
|
rs769170035
|
|
NM_001099274.3(TINF2):c.400-6C>T
|
|
|
NM_001099274.3(TINF2):c.414G>A (p.Glu138=)
|
|
|
NM_001099274.3(TINF2):c.447G>A (p.Lys149=)
|
rs2040574153
|
|
NM_001099274.3(TINF2):c.450G>C (p.Leu150=)
|
|
|
NM_001099274.3(TINF2):c.459G>A (p.Glu153=)
|
|
|
NM_001099274.3(TINF2):c.45C>G (p.Ala15=)
|
rs750285418
|
|
NM_001099274.3(TINF2):c.495G>A (p.Pro165=)
|
|
|
NM_001099274.3(TINF2):c.507+13del
|
rs780404631
|
|
NM_001099274.3(TINF2):c.507+20T>C
|
|
|
NM_001099274.3(TINF2):c.508-10C>T
|
|
|
NM_001099274.3(TINF2):c.508-15T>C
|
rs2139000398
|
|
NM_001099274.3(TINF2):c.508-18C>T
|
rs780585800
|
|
NM_001099274.3(TINF2):c.525T>C (p.Ser175=)
|
|
|
NM_001099274.3(TINF2):c.555T>C (p.Ser185=)
|
|
|
NM_001099274.3(TINF2):c.564C>G (p.Ala188=)
|
|
|
NM_001099274.3(TINF2):c.597G>A (p.Leu199=)
|
|
|
NM_001099274.3(TINF2):c.604+10A>G
|
|
|
NM_001099274.3(TINF2):c.604+13T>C
|
|
|
NM_001099274.3(TINF2):c.604+15G>A
|
|
|
NM_001099274.3(TINF2):c.605-17C>T
|
|
|
NM_001099274.3(TINF2):c.605-20G>A
|
|
|
NM_001099274.3(TINF2):c.631C>T (p.Leu211=)
|
|
|
NM_001099274.3(TINF2):c.63G>A (p.Gln21=)
|
|
|
NM_001099274.3(TINF2):c.714A>T (p.Thr238=)
|
|
|
NM_001099274.3(TINF2):c.747C>T (p.His249=)
|
|
|
NM_001099274.3(TINF2):c.789A>T (p.Leu263=)
|
|
|
NM_001099274.3(TINF2):c.813A>G (p.Gln271=)
|
|
|
NM_001099274.3(TINF2):c.831A>G (p.Gly277=)
|
|
|
NM_001099274.3(TINF2):c.837T>C (p.His279=)
|
|
|
NM_001099274.3(TINF2):c.867C>T (p.Pro289=)
|
|
|
NM_001099274.3(TINF2):c.885A>G (p.Ser295=)
|
|
|
NM_001099274.3(TINF2):c.891C>G (p.Thr297=)
|
|
|
NM_001099274.3(TINF2):c.948A>G (p.Leu316=)
|
|
|
NM_001099274.3(TINF2):c.984T>C (p.Ser328=)
|
rs751773020
|
|
NM_001099274.3(TINF2):c.9G>A (p.Thr3=)
|
rs748683638
|
|
NM_001099274.3(TINF2):c.9G>C (p.Thr3=)
|
|
|
NM_001363.5(DKC1):c.1020A>G (p.Gly340=)
|
|
|
NM_001363.5(DKC1):c.1036+10G>C
|
|
|
NM_001363.5(DKC1):c.1036+13G>A
|
|
|
NM_001363.5(DKC1):c.1036+19T>G
|
|
|
NM_001363.5(DKC1):c.1036+7G>A
|
|
|
NM_001363.5(DKC1):c.1037-13T>A
|
|
|
NM_001363.5(DKC1):c.1037-19C>T
|
|
|
NM_001363.5(DKC1):c.1037-20T>C
|
|
|
NM_001363.5(DKC1):c.1059G>C (p.Ala353=)
|
|
|
NM_001363.5(DKC1):c.1065C>A (p.Ile355=)
|
|
|
NM_001363.5(DKC1):c.1155+15del
|
|
|
NM_001363.5(DKC1):c.1155+19C>T
|
|
|
NM_001363.5(DKC1):c.1156-10G>A
|
|
|
NM_001363.5(DKC1):c.1156-13G>A
|
|
|
NM_001363.5(DKC1):c.1156-14del
|
rs782420759
|
|
NM_001363.5(DKC1):c.1156-16C>G
|
|
|
NM_001363.5(DKC1):c.1156-17C>T
|
|
|
NM_001363.5(DKC1):c.1164G>A (p.Gln388=)
|
|
|
NM_001363.5(DKC1):c.1171C>T (p.Leu391=)
|
|
|
NM_001363.5(DKC1):c.1179C>A (p.Ile393=)
|
rs2148516390
|
|
NM_001363.5(DKC1):c.1188C>T (p.Gly396=)
|
|
|
NM_001363.5(DKC1):c.1194G>A (p.Leu398=)
|
|
|
NM_001363.5(DKC1):c.1233C>T (p.Thr411=)
|
|
|
NM_001363.5(DKC1):c.1245G>A (p.Glu415=)
|
rs2148516440
|
|
NM_001363.5(DKC1):c.1259+7dup
|
|
|
NM_001363.5(DKC1):c.1259+8C>T
|
|
|
NM_001363.5(DKC1):c.1260-11C>T
|
|
|
NM_001363.5(DKC1):c.1260-12C>T
|
|
|
NM_001363.5(DKC1):c.1266T>G (p.Ser422=)
|
rs2148516857
|
|
NM_001363.5(DKC1):c.1269C>T (p.Ala423=)
|
|
|
NM_001363.5(DKC1):c.126C>G (p.Ser42=)
|
rs2148509477
|
|
NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)
|
|
|
NM_001363.5(DKC1):c.12G>A (p.Ala4=)
|
|
|
NM_001363.5(DKC1):c.1302C>T (p.Ala434=)
|
|
|
NM_001363.5(DKC1):c.1338+10A>T
|
|
|
NM_001363.5(DKC1):c.1338+14T>C
|
|
|
NM_001363.5(DKC1):c.1338+15G>C
|
|
|
NM_001363.5(DKC1):c.1338+18C>G
|
|
|
NM_001363.5(DKC1):c.1338+20C>T
|
rs2148516959
|
|
NM_001363.5(DKC1):c.1339-13G>A
|
|
|
NM_001363.5(DKC1):c.1339-19C>T
|
|
|
NM_001363.5(DKC1):c.1339-20A>C
|
|
|
NM_001363.5(DKC1):c.1339-8C>T
|
|
|
NM_001363.5(DKC1):c.1356G>A (p.Glu452=)
|
|
|
NM_001363.5(DKC1):c.1383A>G (p.Ala461=)
|
rs1293654532
|
|
NM_001363.5(DKC1):c.1404G>A (p.Lys468=)
|
|
|
NM_001363.5(DKC1):c.1416G>A (p.Lys472=)
|
rs2148517591
|
|
NM_001363.5(DKC1):c.1473T>C (p.Asp491=)
|
|
|
NM_001363.5(DKC1):c.1476+11A>G
|
rs2148517651
|
|
NM_001363.5(DKC1):c.1476+14C>T
|
|
|
NM_001363.5(DKC1):c.1477-10T>C
|
|
|
NM_001363.5(DKC1):c.1477-10_1477-9del
|
|
|
NM_001363.5(DKC1):c.1477-13T>G
|
|
|
NM_001363.5(DKC1):c.1477-20T>C
|
|
|
NM_001363.5(DKC1):c.1477-28_1477-18del
|
|
|
NM_001363.5(DKC1):c.1477-8C>G
|
|
|
NM_001363.5(DKC1):c.1479C>T (p.Asp493=)
|
|
|
NM_001363.5(DKC1):c.147G>A (p.Thr49=)
|
|
|
NM_001363.5(DKC1):c.1482T>C (p.Ser494=)
|
rs2148518000
|
|
NM_001363.5(DKC1):c.1494GAA[9] (p.Lys504_Lys505dup)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1531T>C (p.Leu511=)
|
|
|
NM_001363.5(DKC1):c.159C>T (p.Pro53=)
|
rs2148509505
|
|
NM_001363.5(DKC1):c.16+10G>T
|
|
|
NM_001363.5(DKC1):c.16+11C>T
|
|
|
NM_001363.5(DKC1):c.16+18C>G
|
|
|
NM_001363.5(DKC1):c.16+24_16+39del
|
rs2148507554
|
|
NM_001363.5(DKC1):c.16+8C>T
|
|
|
NM_001363.5(DKC1):c.17-10G>A
|
rs2148509118
|
|
NM_001363.5(DKC1):c.17-14_17-13del
|
rs782596086
|
|
NM_001363.5(DKC1):c.17-16G>A
|
|
|
NM_001363.5(DKC1):c.17-16G>T
|
|
|
NM_001363.5(DKC1):c.17-7T>A
|
|
|
NM_001363.5(DKC1):c.17-9T>A
|
|
|
NM_001363.5(DKC1):c.171+16C>G
|
|
|
NM_001363.5(DKC1):c.171+16C>T
|
|
|
NM_001363.5(DKC1):c.171+17G>A
|
|
|
NM_001363.5(DKC1):c.171+8G>A
|
rs2071734340
|
|
NM_001363.5(DKC1):c.172-12G>C
|
|
|
NM_001363.5(DKC1):c.172-18_172-14del
|
|
|
NM_001363.5(DKC1):c.189T>C (p.Asn63=)
|
|
|
NM_001363.5(DKC1):c.219A>G (p.Ala73=)
|
|
|
NM_001363.5(DKC1):c.243A>G (p.Arg81=)
|
|
|
NM_001363.5(DKC1):c.252G>A (p.Gly84=)
|
|
|
NM_001363.5(DKC1):c.263+11G>A
|
|
|
NM_001363.5(DKC1):c.263+13del
|
rs1343619839
|
|
NM_001363.5(DKC1):c.263+20A>C
|
|
|
NM_001363.5(DKC1):c.263+7G>T
|
|
|
NM_001363.5(DKC1):c.264-10T>C
|
|
|
NM_001363.5(DKC1):c.264-14T>C
|
|
|
NM_001363.5(DKC1):c.264-9C>T
|
rs1300109572
|
|
NM_001363.5(DKC1):c.300C>G (p.Pro100=)
|
|
|
NM_001363.5(DKC1):c.30A>G (p.Pro10=)
|
|
|
NM_001363.5(DKC1):c.315G>A (p.Val105=)
|
rs2148509927
|
|
NM_001363.5(DKC1):c.354A>C (p.Thr118=)
|
|
|
NM_001363.5(DKC1):c.417C>T (p.Ala139=)
|
|
|
NM_001363.5(DKC1):c.420T>C (p.Thr140=)
|
|
|
NM_001363.5(DKC1):c.42G>A (p.Lys14=)
|
|
|
NM_001363.5(DKC1):c.438A>G (p.Gln146=)
|
|
|
NM_001363.5(DKC1):c.448+11G>A
|
|
|
NM_001363.5(DKC1):c.448+18G>A
|
rs2148510020
|
|
NM_001363.5(DKC1):c.448+19G>A
|
|
|
NM_001363.5(DKC1):c.448+19G>C
|
|
|
NM_001363.5(DKC1):c.448+19G>T
|
|
|
NM_001363.5(DKC1):c.449-13T>C
|
rs2148510453
|
|
NM_001363.5(DKC1):c.449-17C>T
|
|
|
NM_001363.5(DKC1):c.475C>T (p.Leu159=)
|
|
|
NM_001363.5(DKC1):c.498G>A (p.Gly166=)
|
|
|
NM_001363.5(DKC1):c.498G>C (p.Gly166=)
|
|
|
NM_001363.5(DKC1):c.513+12A>G
|
|
|
NM_001363.5(DKC1):c.513+19G>A
|
|
|
NM_001363.5(DKC1):c.513+20G>A
|
|
|
NM_001363.5(DKC1):c.513+7_513+8del
|
|
|
NM_001363.5(DKC1):c.514-10T>G
|
|
|
NM_001363.5(DKC1):c.514-14G>T
|
|
|
NM_001363.5(DKC1):c.514-18_514-15del
|
|
|
NM_001363.5(DKC1):c.514-4T>G
|
|
|
NM_001363.5(DKC1):c.514-8G>T
|
rs2148510635
|
|
NM_001363.5(DKC1):c.516C>T (p.Ala172=)
|
|
|
NM_001363.5(DKC1):c.522A>G (p.Glu174=)
|
rs782471921
|
|
NM_001363.5(DKC1):c.540A>G (p.Leu180=)
|
rs781897987
|
|
NM_001363.5(DKC1):c.546G>A (p.Gln182=)
|
|
|
NM_001363.5(DKC1):c.576G>A (p.Arg192=)
|
|
|
NM_001363.5(DKC1):c.579G>A (p.Gln193=)
|
|
|
NM_001363.5(DKC1):c.591G>A (p.Arg197=)
|
|
|
NM_001363.5(DKC1):c.59A>G (p.Lys20Arg)
|
|
|
NM_001363.5(DKC1):c.621C>T (p.Tyr207=)
|
|
|
NM_001363.5(DKC1):c.640+8A>C
|
|
|
NM_001363.5(DKC1):c.641-19_641-18del
|
|
|
NM_001363.5(DKC1):c.641-9G>T
|
|
|
NM_001363.5(DKC1):c.669C>T (p.Gly223=)
|
|
|
NM_001363.5(DKC1):c.684A>G (p.Thr228=)
|
|
|
NM_001363.5(DKC1):c.690T>C (p.Cys230=)
|
|
|
NM_001363.5(DKC1):c.709T>C (p.Leu237=)
|
|
|
NM_001363.5(DKC1):c.753T>A (p.Ser251=)
|
|
|
NM_001363.5(DKC1):c.75A>G (p.Glu25=)
|
rs2148509198
|
|
NM_001363.5(DKC1):c.771+11C>T
|
|
|
NM_001363.5(DKC1):c.771+12G>A
|
|
|
NM_001363.5(DKC1):c.771+12G>T
|
|
|
NM_001363.5(DKC1):c.771+16del
|
|
|
NM_001363.5(DKC1):c.771+19G>C
|
rs2148511663
|
|
NM_001363.5(DKC1):c.772-10del
|
|
|
NM_001363.5(DKC1):c.772-15A>G
|
|
|
NM_001363.5(DKC1):c.772-9G>A
|
|
|
NM_001363.5(DKC1):c.772-9G>C
|
|
|
NM_001363.5(DKC1):c.795T>C (p.Asp265=)
|
|
|
NM_001363.5(DKC1):c.816G>C (p.Leu272=)
|
|
|
NM_001363.5(DKC1):c.822T>C (p.Asp274=)
|
rs1002559487
|
|
NM_001363.5(DKC1):c.828C>T (p.His276=)
|
rs1603429504
|
|
NM_001363.5(DKC1):c.84+10A>T
|
rs782718798
|
|
NM_001363.5(DKC1):c.84+13G>C
|
|
|
NM_001363.5(DKC1):c.84+15dup
|
|
|
NM_001363.5(DKC1):c.84+16T>A
|
|
|
NM_001363.5(DKC1):c.84+8del
|
|
|
NM_001363.5(DKC1):c.843C>T (p.Tyr281=)
|
|
|
NM_001363.5(DKC1):c.85-18A>G
|
|
|
NM_001363.5(DKC1):c.867G>A (p.Leu289=)
|
|
|
NM_001363.5(DKC1):c.877T>C (p.Leu293=)
|
rs1603429508
|
|
NM_001363.5(DKC1):c.882A>G (p.Thr294=)
|
|
|
NM_001363.5(DKC1):c.894G>T (p.Arg298=)
|
|
|
NM_001363.5(DKC1):c.897G>A (p.Leu299=)
|
|
|
NM_001363.5(DKC1):c.906A>G (p.Lys302=)
|
|
|
NM_001363.5(DKC1):c.90A>C (p.Ile30=)
|
|
|
NM_001363.5(DKC1):c.915+10G>A
|
rs1603429509
|
|
NM_001363.5(DKC1):c.915+17G>A
|
rs2148512556
|
|
NM_001363.5(DKC1):c.915+19G>A
|
|
|
NM_001363.5(DKC1):c.916-11C>T
|
|
|
NM_001363.5(DKC1):c.916-12C>G
|
|
|
NM_001363.5(DKC1):c.916-15dup
|
rs1218146343
|
|
NM_001363.5(DKC1):c.916-5T>C
|
rs2148513598
|
|
NM_001363.5(DKC1):c.916-6C>T
|
rs782345716
|
|
NM_001363.5(DKC1):c.930C>T (p.Cys310=)
|
|
|
NM_001363.5(DKC1):c.939C>T (p.Ala313=)
|
|
|
NM_001363.5(DKC1):c.969T>C (p.Tyr323=)
|
rs2148513634
|
|
NM_001363.5(DKC1):c.984G>A (p.Glu328=)
|
|
|
NM_001363.5(DKC1):c.999T>C (p.Ile333=)
|
|
|
NM_001363.5(DKC1):c.99T>C (p.Ala33=)
|
|
|
NM_017838.4(NHP2):c.132G>A (p.Thr44=)
|
rs764657822
|
|
NM_017838.4(NHP2):c.15G>A (p.Lys5=)
|
|
|
NM_017838.4(NHP2):c.160+10A>C
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+10A>G
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+10A>T
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+11C>A
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+11C>G
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+12G>A
|
|
|
NM_017838.4(NHP2):c.160+13G>A
|
rs2113476424
|
|
NM_017838.4(NHP2):c.160+14C>A
|
|
|
NM_017838.4(NHP2):c.160+16G>A
|
|
|
NM_017838.4(NHP2):c.160+7C>T
|
|
|
NM_017838.4(NHP2):c.160+9del
|
|
|
NM_017838.4(NHP2):c.161-15C>G
|
rs774227396
|
|
NM_017838.4(NHP2):c.161-4G>A
|
|
|
NM_017838.4(NHP2):c.161-5T>G
|
|
|
NM_017838.4(NHP2):c.161-7G>A
|
|
|
NM_017838.4(NHP2):c.161-8C>T
|
|
|
NM_017838.4(NHP2):c.162G>C (p.Ala54=)
|
|
|
NM_017838.4(NHP2):c.186C>G (p.Arg62=)
|
|
|
NM_017838.4(NHP2):c.18A>G (p.Ala6=)
|
|
|
NM_017838.4(NHP2):c.210T>C (p.Phe70=)
|
|
|
NM_017838.4(NHP2):c.213C>G (p.Val71=)
|
rs575702154
|
|
NM_017838.4(NHP2):c.230+13C>A
|
|
|
NM_017838.4(NHP2):c.230+13C>T
|
rs1561645171
|
|
NM_017838.4(NHP2):c.230+16C>T
|
|
|
NM_017838.4(NHP2):c.230+8C>A
|
rs764940566
|
|
NM_017838.4(NHP2):c.231-13TC[2]
|
|
|
NM_017838.4(NHP2):c.231-20dup
|
|
|
NM_017838.4(NHP2):c.24C>G (p.Pro8=)
|
|
|
NM_017838.4(NHP2):c.267G>A (p.Glu89=)
|
|
|
NM_017838.4(NHP2):c.27C>T (p.Asp9=)
|
rs1178370439
|
|
NM_017838.4(NHP2):c.324C>T (p.Ile108=)
|
|
|
NM_017838.4(NHP2):c.336+11C>T
|
|
|
NM_017838.4(NHP2):c.336+18C>T
|
|
|
NM_017838.4(NHP2):c.336+20_336+21del
|
|
|
NM_017838.4(NHP2):c.33C>G (p.Pro11=)
|
|
|
NM_017838.4(NHP2):c.366C>G (p.Arg122=)
|
rs2113463130
|
|
NM_017838.4(NHP2):c.378G>A (p.Val126=)
|
rs1756216301
|
|
NM_017838.4(NHP2):c.447G>A (p.Leu149=)
|
rs754228756
|
|
NM_017838.4(NHP2):c.456C>A (p.Pro152=)
|
|
|
NM_017838.4(NHP2):c.45G>A (p.Ala15=)
|
|
|
NM_017838.4(NHP2):c.60G>C (p.Gly20=)
|
|
|
NM_022762.5(RMND5B):c.*1817G>A
|
rs1028921372
|
|
NM_022762.5(RMND5B):c.*1821G>A
|
|
|
NM_022762.5(RMND5B):c.*1824G>A
|
|
|
NM_025099.6(CTC1):c.1011C>T (p.Pro337=)
|
|
|
NM_025099.6(CTC1):c.1026C>T (p.Asp342=)
|
|
|
NM_025099.6(CTC1):c.1066C>T (p.Leu356=)
|
rs1244119231
|
|
NM_025099.6(CTC1):c.1078-4G>A
|
rs375114652
|
|
NM_025099.6(CTC1):c.1078-4G>T
|
rs375114652
|
|
NM_025099.6(CTC1):c.1078-8G>A
|
|
|
NM_025099.6(CTC1):c.108C>T (p.Val36=)
|
rs2151546050
|
|
NM_025099.6(CTC1):c.1135C>T (p.Leu379=)
|
rs1597385203
|
|
NM_025099.6(CTC1):c.1161G>A (p.Gln387=)
|
|
|
NM_025099.6(CTC1):c.1197G>A (p.Val399=)
|
|
|
NM_025099.6(CTC1):c.1206+13A>G
|
|
|
NM_025099.6(CTC1):c.1206+16G>A
|
|
|
NM_025099.6(CTC1):c.1206+19G>A
|
|
|
NM_025099.6(CTC1):c.1242G>C (p.Gly414=)
|
|
|
NM_025099.6(CTC1):c.1245G>C (p.Gly415=)
|
rs1987612163
|
|
NM_025099.6(CTC1):c.1263C>T (p.Leu421=)
|
rs536218211
|
|
NM_025099.6(CTC1):c.1281C>A (p.Gly427=)
|
rs754774538
|
|
NM_025099.6(CTC1):c.12C>T (p.Gly4=)
|
|
|
NM_025099.6(CTC1):c.1320G>T (p.Gly440=)
|
rs2151519856
|
|
NM_025099.6(CTC1):c.1332C>A (p.Ser444=)
|
|
|
NM_025099.6(CTC1):c.1332C>G (p.Ser444=)
|
rs1987600121
|
|
NM_025099.6(CTC1):c.1353C>G (p.Ser451=)
|
|
|
NM_025099.6(CTC1):c.1354C>T (p.Leu452=)
|
rs1987595222
|
|
NM_025099.6(CTC1):c.1371G>T (p.Val457=)
|
rs2151519516
|
|
NM_025099.6(CTC1):c.1404G>A (p.Leu468=)
|
rs1987588693
|
|
NM_025099.6(CTC1):c.1410T>C (p.Ala470=)
|
|
|
NM_025099.6(CTC1):c.1439+17C>T
|
rs1467120986
|
|
NM_025099.6(CTC1):c.1439+7A>G
|
rs1987585756
|
|
NM_025099.6(CTC1):c.1439+7_1439+9del
|
rs1391648072
|
|
NM_025099.6(CTC1):c.1439+8G>A
|
|
|
NM_025099.6(CTC1):c.1439+9G>C
|
|
|
NM_025099.6(CTC1):c.1440-20_1440-19del
|
rs1332067370
|
|
NM_025099.6(CTC1):c.1461A>G (p.Arg487=)
|
|
|
NM_025099.6(CTC1):c.147C>G (p.Val49=)
|
|
|
NM_025099.6(CTC1):c.1494G>A (p.Gly498=)
|
rs750860792
|
|
NM_025099.6(CTC1):c.1504C>T (p.Leu502=)
|
|
|
NM_025099.6(CTC1):c.1509A>G (p.Gly503=)
|
rs2151518608
|
|
NM_025099.6(CTC1):c.1539T>C (p.Leu513=)
|
rs2151518499
|
|
NM_025099.6(CTC1):c.1548G>T (p.Pro516=)
|
|
|
NM_025099.6(CTC1):c.1557C>T (p.Ser519=)
|
|
|
NM_025099.6(CTC1):c.1564C>A (p.Arg522=)
|
rs199698527
|
|
NM_025099.6(CTC1):c.1566G>C (p.Arg522=)
|
|
|
NM_025099.6(CTC1):c.1593G>A (p.Glu531=)
|
rs1407136775
|
|
NM_025099.6(CTC1):c.15G>C (p.Arg5=)
|
rs1252023203
|
|
NM_025099.6(CTC1):c.1611C>T (p.Leu537=)
|
|
|
NM_025099.6(CTC1):c.1617+13G>A
|
|
|
NM_025099.6(CTC1):c.1617+13G>T
|
|
|
NM_025099.6(CTC1):c.1617+7G>C
|
|
|
NM_025099.6(CTC1):c.1618-16C>T
|
|
|
NM_025099.6(CTC1):c.1618-8C>T
|
rs2151517816
|
|
NM_025099.6(CTC1):c.1618-9C>T
|
rs2151517821
|
|
NM_025099.6(CTC1):c.1626G>A (p.Arg542=)
|
|
|
NM_025099.6(CTC1):c.1638C>T (p.Pro546=)
|
rs2151517678
|
|
NM_025099.6(CTC1):c.165G>A (p.Arg55=)
|
rs2151545845
|
|
NM_025099.6(CTC1):c.1683T>G (p.Arg561=)
|
rs1285328109
|
|
NM_025099.6(CTC1):c.1704C>T (p.Asp568=)
|
|
|
NM_025099.6(CTC1):c.1719G>C (p.Leu573=)
|
rs1282827614
|
|
NM_025099.6(CTC1):c.1725C>G (p.Leu575=)
|
|
|
NM_025099.6(CTC1):c.1728G>T (p.Pro576=)
|
rs78320653
|
|
NM_025099.6(CTC1):c.1764C>T (p.Arg588=)
|
|
|
NM_025099.6(CTC1):c.1789C>T (p.Leu597=)
|
|
|
NM_025099.6(CTC1):c.1797C>T (p.Pro599=)
|
rs2151516939
|
|
NM_025099.6(CTC1):c.180A>G (p.Thr60=)
|
|
|
NM_025099.6(CTC1):c.1812A>G (p.Pro604=)
|
|
|
NM_025099.6(CTC1):c.1815C>T (p.Ala605=)
|
|
|
NM_025099.6(CTC1):c.1818+17C>T
|
|
|
NM_025099.6(CTC1):c.1819-12A>T
|
|
|
NM_025099.6(CTC1):c.1819-17C>T
|
|
|
NM_025099.6(CTC1):c.1819-19A>C
|
|
|
NM_025099.6(CTC1):c.1819-21_1819-17del
|
rs2151513134
|
|
NM_025099.6(CTC1):c.1819-4G>T
|
|
|
NM_025099.6(CTC1):c.181C>T (p.Leu61=)
|
rs1439520622
|
|
NM_025099.6(CTC1):c.1845A>G (p.Ser615=)
|
|
|
NM_025099.6(CTC1):c.1857T>C (p.Gly619=)
|
rs2151512859
|
|
NM_025099.6(CTC1):c.1890G>A (p.Leu630=)
|
rs765952322
|
|
NM_025099.6(CTC1):c.1890G>C (p.Leu630=)
|
|
|
NM_025099.6(CTC1):c.18C>G (p.Ala6=)
|
rs377706974
|
|
NM_025099.6(CTC1):c.1923C>T (p.Pro641=)
|
rs1432613856
|
|
NM_025099.6(CTC1):c.1926C>T (p.Leu642=)
|
|
|
NM_025099.6(CTC1):c.1938G>A (p.Arg646=)
|
|
|
NM_025099.6(CTC1):c.1945+10del
|
|
|
NM_025099.6(CTC1):c.1945+19G>A
|
rs2151512377
|
|
NM_025099.6(CTC1):c.1946-11T>C
|
rs372245030
|
|
NM_025099.6(CTC1):c.1946-17A>G
|
|
|
NM_025099.6(CTC1):c.1946-4C>T
|
|
|
NM_025099.6(CTC1):c.1956G>A (p.Val652=)
|
rs2151511215
|
|
NM_025099.6(CTC1):c.197+18T>C
|
|
|
NM_025099.6(CTC1):c.197+8G>A
|
|
|
NM_025099.6(CTC1):c.198-12T>G
|
rs2151532365
|
|
NM_025099.6(CTC1):c.198-15C>G
|
|
|
NM_025099.6(CTC1):c.198-17T>C
|
|
|
NM_025099.6(CTC1):c.198-20C>G
|
|
|
NM_025099.6(CTC1):c.198-4A>G
|
rs1597389646
|
|
NM_025099.6(CTC1):c.1989G>A (p.Arg663=)
|
|
|
NM_025099.6(CTC1):c.1992C>T (p.Asp664=)
|
rs755004377
|
|
NM_025099.6(CTC1):c.2013C>G (p.Ser671=)
|
|
|
NM_025099.6(CTC1):c.201C>T (p.Phe67=)
|
rs552540195
|
|
NM_025099.6(CTC1):c.2037C>T (p.Gly679=)
|
rs2151510889
|
|
NM_025099.6(CTC1):c.2060+12G>A
|
rs1987317835
|
|
NM_025099.6(CTC1):c.2060+13G>C
|
|
|
NM_025099.6(CTC1):c.2060+18A>G
|
|
|
NM_025099.6(CTC1):c.2060+9C>A
|
rs2151510790
|
|
NM_025099.6(CTC1):c.2061-12C>G
|
|
|
NM_025099.6(CTC1):c.2061-14G>T
|
rs774632748
|
|
NM_025099.6(CTC1):c.2061-20T>G
|
|
|
NM_025099.6(CTC1):c.2097C>T (p.Ile699=)
|
|
|
NM_025099.6(CTC1):c.210A>G (p.Val70=)
|
|
|
NM_025099.6(CTC1):c.2136C>T (p.Pro712=)
|
|
|
NM_025099.6(CTC1):c.2166A>G (p.Pro722=)
|
rs2151509876
|
|
NM_025099.6(CTC1):c.2178C>T (p.His726=)
|
rs201146538
|
|
NM_025099.6(CTC1):c.2235T>C (p.Asn745=)
|
rs2151509581
|
|
NM_025099.6(CTC1):c.2244C>G (p.Val748=)
|
rs758516017
|
|
NM_025099.6(CTC1):c.2247C>G (p.Pro749=)
|
|
|
NM_025099.6(CTC1):c.2247C>T (p.Pro749=)
|
|
|
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
|
rs1164794062
|
|
NM_025099.6(CTC1):c.225T>C (p.Thr75=)
|
rs761598220
|
|
NM_025099.6(CTC1):c.228C>T (p.His76=)
|
rs531109382
|
|
NM_025099.6(CTC1):c.2322G>A (p.Gln774=)
|
|
|
NM_025099.6(CTC1):c.2346G>T (p.Gly782=)
|
|
|
NM_025099.6(CTC1):c.237C>G (p.Leu79=)
|
rs2151532137
|
|
NM_025099.6(CTC1):c.237C>T (p.Leu79=)
|
|
|
NM_025099.6(CTC1):c.2386-16C>T
|
|
|
NM_025099.6(CTC1):c.2386-16del
|
|
|
NM_025099.6(CTC1):c.2386-20T>A
|
rs374816662
|
|
NM_025099.6(CTC1):c.2386-20T>C
|
rs374816662
|
|
NM_025099.6(CTC1):c.2386-5C>T
|
rs757334155
|
|
NM_025099.6(CTC1):c.2391C>T (p.His797=)
|
|
|
NM_025099.6(CTC1):c.2394C>G (p.Leu798=)
|
|
|
NM_025099.6(CTC1):c.2409T>C (p.Ser803=)
|
rs1987252367
|
|
NM_025099.6(CTC1):c.2418C>T (p.Arg806=)
|
|
|
NM_025099.6(CTC1):c.2466T>C (p.Pro822=)
|
rs2151508201
|
|
NM_025099.6(CTC1):c.2472C>G (p.Pro824=)
|
rs558802130
|
|
NM_025099.6(CTC1):c.2475+20A>G
|
|
|
NM_025099.6(CTC1):c.2475+9C>A
|
rs781404123
|
|
NM_025099.6(CTC1):c.2475+9C>G
|
|
|
NM_025099.6(CTC1):c.2475+9C>T
|
rs781404123
|
|
NM_025099.6(CTC1):c.24C>A (p.Val8=)
|
rs749818659
|
|
NM_025099.6(CTC1):c.2505A>G (p.Ser835=)
|
|
|
NM_025099.6(CTC1):c.2508C>T (p.Ser836=)
|
|
|
NM_025099.6(CTC1):c.2538T>C (p.Ala846=)
|
|
|
NM_025099.6(CTC1):c.2547A>G (p.Ala849=)
|
|
|
NM_025099.6(CTC1):c.2586T>G (p.Leu862=)
|
rs2151506876
|
|
NM_025099.6(CTC1):c.258G>C (p.Ser86=)
|
rs369789111
|
|
NM_025099.6(CTC1):c.258G>T (p.Ser86=)
|
rs369789111
|
|
NM_025099.6(CTC1):c.2610T>C (p.Asp870=)
|
|
|
NM_025099.6(CTC1):c.2613G>A (p.Val871=)
|
|
|
NM_025099.6(CTC1):c.2619T>C (p.Asp873=)
|
rs2151506753
|
|
NM_025099.6(CTC1):c.2631A>G (p.Ser877=)
|
rs1335870783
|
|
NM_025099.6(CTC1):c.2669+13C>G
|
|
|
NM_025099.6(CTC1):c.2669+17C>A
|
|
|
NM_025099.6(CTC1):c.2669+18C>T
|
rs769461004
|
|
NM_025099.6(CTC1):c.2670-12C>G
|
rs1987142319
|
|
NM_025099.6(CTC1):c.2718A>G (p.Thr906=)
|
|
|
NM_025099.6(CTC1):c.2719C>T (p.Leu907=)
|
|
|
NM_025099.6(CTC1):c.273A>G (p.Ala91=)
|
|
|
NM_025099.6(CTC1):c.2742T>C (p.Ser914=)
|
rs1248489024
|
|
NM_025099.6(CTC1):c.2758+11T>C
|
|
|
NM_025099.6(CTC1):c.2758+7A>T
|
rs2151504452
|
|
NM_025099.6(CTC1):c.2759-12T>C
|
|
|
NM_025099.6(CTC1):c.2759-20C>T
|
|
|
NM_025099.6(CTC1):c.2759-4A>G
|
rs374727205
|
|
NM_025099.6(CTC1):c.2759-4A>T
|
rs374727205
|
|
NM_025099.6(CTC1):c.2799C>T (p.Val933=)
|
|
|
NM_025099.6(CTC1):c.27T>A (p.Pro9=)
|
|
|
NM_025099.6(CTC1):c.27T>C (p.Pro9=)
|
rs2151564261
|
|
NM_025099.6(CTC1):c.2802T>C (p.Ala934=)
|
|
|
NM_025099.6(CTC1):c.2811T>G (p.Thr937=)
|
|
|
NM_025099.6(CTC1):c.2826C>T (p.Phe942=)
|
|
|
NM_025099.6(CTC1):c.2847T>C (p.Tyr949=)
|
|
|
NM_025099.6(CTC1):c.2880A>G (p.Gly960=)
|
|
|
NM_025099.6(CTC1):c.2910C>T (p.Ser970=)
|
|
|
NM_025099.6(CTC1):c.2933+18C>T
|
|
|
NM_025099.6(CTC1):c.2933+8T>C
|
rs1160513274
|
|
NM_025099.6(CTC1):c.2933+9G>A
|
|
|
NM_025099.6(CTC1):c.3011+19A>G
|
|
|
NM_025099.6(CTC1):c.3012-12G>C
|
|
|
NM_025099.6(CTC1):c.3012-18C>T
|
|
|
NM_025099.6(CTC1):c.3012-20_3012-19del
|
rs372844070
|
|
NM_025099.6(CTC1):c.3012-5_3012-2del
|
rs2151500920
|
|
NM_025099.6(CTC1):c.3012-7T>C
|
|
|
NM_025099.6(CTC1):c.3024C>T (p.Pro1008=)
|
|
|
NM_025099.6(CTC1):c.3033C>T (p.Tyr1011=)
|
|
|
NM_025099.6(CTC1):c.303A>G (p.Pro101=)
|
|
|
NM_025099.6(CTC1):c.3045T>A (p.Leu1015=)
|
|
|
NM_025099.6(CTC1):c.3066A>G (p.Pro1022=)
|
|
|
NM_025099.6(CTC1):c.3081C>T (p.Ala1027=)
|
|
|
NM_025099.6(CTC1):c.3108C>T (p.Ser1036=)
|
|
|
NM_025099.6(CTC1):c.3150C>T (p.Cys1050=)
|
rs1310614752
|
|
NM_025099.6(CTC1):c.3156+10G>A
|
|
|
NM_025099.6(CTC1):c.3157-14T>C
|
|
|
NM_025099.6(CTC1):c.3157-15C>T
|
|
|
NM_025099.6(CTC1):c.3157-16A>C
|
rs1986997815
|
|
NM_025099.6(CTC1):c.3157-7A>T
|
rs2151500127
|
|
NM_025099.6(CTC1):c.315C>T (p.Pro105=)
|
|
|
NM_025099.6(CTC1):c.3174G>A (p.Leu1058=)
|
rs1597373933
|
|
NM_025099.6(CTC1):c.3192G>A (p.Thr1064=)
|
|
|
NM_025099.6(CTC1):c.3216C>T (p.Ile1072=)
|
rs2151499882
|
|
NM_025099.6(CTC1):c.3221+14G>A
|
|
|
NM_025099.6(CTC1):c.3221+15C>T
|
|
|
NM_025099.6(CTC1):c.3221+19C>A
|
rs2151499736
|
|
NM_025099.6(CTC1):c.3222-10C>G
|
|
|
NM_025099.6(CTC1):c.3222-10C>T
|
|
|
NM_025099.6(CTC1):c.3231G>A (p.Val1077=)
|
rs2151499073
|
|
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
|
|
|
NM_025099.6(CTC1):c.33+13A>G
|
|
|
NM_025099.6(CTC1):c.33+15T>A
|
|
|
NM_025099.6(CTC1):c.33+17C>A
|
|
|
NM_025099.6(CTC1):c.33+7G>A
|
|
|
NM_025099.6(CTC1):c.33+7G>T
|
rs1179270612
|
|
NM_025099.6(CTC1):c.33+9T>C
|
|
|
NM_025099.6(CTC1):c.33+9T>G
|
rs373483074
|
|
NM_025099.6(CTC1):c.3303T>C (p.Pro1101=)
|
|
|
NM_025099.6(CTC1):c.3387+9T>C
|
rs2151498469
|
|
NM_025099.6(CTC1):c.3388-19C>T
|
|
|
NM_025099.6(CTC1):c.3388-20C>G
|
|
|
NM_025099.6(CTC1):c.3388-22_3388-17del
|
rs780812864
|
|
NM_025099.6(CTC1):c.3388-5T>C
|
|
|
NM_025099.6(CTC1):c.3388-7T>C
|
rs752759103
|
|
NM_025099.6(CTC1):c.3388-8C>T
|
|
|
NM_025099.6(CTC1):c.34-6C>T
|
|
|
NM_025099.6(CTC1):c.3405C>T (p.Asp1135=)
|
|
|
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=)
|
rs1285633618
|
|
NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)
|
|
|
NM_025099.6(CTC1):c.3447C>T (p.Pro1149=)
|
|
|
NM_025099.6(CTC1):c.3468G>T (p.Val1156=)
|
rs1213104518
|
|
NM_025099.6(CTC1):c.3492A>G (p.Lys1164=)
|
rs952574848
|
|
NM_025099.6(CTC1):c.3498G>T (p.Ser1166=)
|
rs369209127
|
|
NM_025099.6(CTC1):c.3514+15G>A
|
|
|
NM_025099.6(CTC1):c.3514+16G>C
|
|
|
NM_025099.6(CTC1):c.3514+16G>T
|
|
|
NM_025099.6(CTC1):c.3514+7T>C
|
|
|
NM_025099.6(CTC1):c.3514+8T>G
|
|
|
NM_025099.6(CTC1):c.3515-19T>C
|
rs2151497033
|
|
NM_025099.6(CTC1):c.3515-8C>T
|
|
|
NM_025099.6(CTC1):c.3515-8del
|
rs2151496968
|
|
NM_025099.6(CTC1):c.3549G>A (p.Glu1183=)
|
|
|
NM_025099.6(CTC1):c.3555T>G (p.Pro1185=)
|
rs755022443
|
|
NM_025099.6(CTC1):c.3558C>T (p.Phe1186=)
|
|
|
NM_025099.6(CTC1):c.3576C>G (p.Pro1192=)
|
rs2151496784
|
|
NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)
|
|
|
NM_025099.6(CTC1):c.358C>T (p.Leu120=)
|
rs2151531587
|
|
NM_025099.6(CTC1):c.3591C>T (p.Ser1197=)
|
rs115990839
|
|
NM_025099.6(CTC1):c.360A>G (p.Leu120=)
|
rs201957649
|
|
NM_025099.6(CTC1):c.3612A>G (p.Ser1204=)
|
|
|
NM_025099.6(CTC1):c.3628C>T (p.Leu1210=)
|
|
|
NM_025099.6(CTC1):c.3642T>C (p.Ala1214=)
|
rs2151496599
|
|
NM_025099.6(CTC1):c.3645C>G (p.Ser1215=)
|
rs2151496592
|
|
NM_025099.6(CTC1):c.36A>G (p.Glu12=)
|
|
|
NM_025099.6(CTC1):c.408A>G (p.Arg136=)
|
|
|
NM_025099.6(CTC1):c.420C>T (p.Gly140=)
|
rs1207136461
|
|
NM_025099.6(CTC1):c.435+9A>C
|
|
|
NM_025099.6(CTC1):c.436-17C>G
|
|
|
NM_025099.6(CTC1):c.438C>A (p.Leu146=)
|
rs922605347
|
|
NM_025099.6(CTC1):c.438C>T (p.Leu146=)
|
|
|
NM_025099.6(CTC1):c.444C>T (p.Asp148=)
|
|
|
NM_025099.6(CTC1):c.447G>C (p.Leu149=)
|
|
|
NM_025099.6(CTC1):c.456T>C (p.Ser152=)
|
|
|
NM_025099.6(CTC1):c.480C>T (p.Phe160=)
|
|
|
NM_025099.6(CTC1):c.51G>A (p.Glu17=)
|
|
|
NM_025099.6(CTC1):c.54T>C (p.Asp18=)
|
|
|
NM_025099.6(CTC1):c.603C>T (p.Ile201=)
|
|
|
NM_025099.6(CTC1):c.633C>T (p.Cys211=)
|
|
|
NM_025099.6(CTC1):c.63C>G (p.Val21=)
|
|
|
NM_025099.6(CTC1):c.647+10C>A
|
|
|
NM_025099.6(CTC1):c.647+11C>T
|
|
|
NM_025099.6(CTC1):c.647+18G>A
|
rs373103137
|
|
NM_025099.6(CTC1):c.647+8C>T
|
rs2151530046
|
|
NM_025099.6(CTC1):c.648-8C>T
|
rs2151527978
|
|
NM_025099.6(CTC1):c.697T>C (p.Leu233=)
|
rs775207921
|
|
NM_025099.6(CTC1):c.711G>A (p.Val237=)
|
rs1196630450
|
|
NM_025099.6(CTC1):c.768C>T (p.Val256=)
|
|
|
NM_025099.6(CTC1):c.771C>G (p.Thr257=)
|
|
|
NM_025099.6(CTC1):c.774C>T (p.His258=)
|
|
|
NM_025099.6(CTC1):c.792+12G>A
|
rs2151527447
|
|
NM_025099.6(CTC1):c.792+9T>A
|
|
|
NM_025099.6(CTC1):c.793-18T>G
|
rs2151524334
|
|
NM_025099.6(CTC1):c.793-20C>T
|
|
|
NM_025099.6(CTC1):c.793-4C>A
|
|
|
NM_025099.6(CTC1):c.793-4C>G
|
|
|
NM_025099.6(CTC1):c.793-8C>A
|
rs2151524293
|
|
NM_025099.6(CTC1):c.805C>T (p.Leu269=)
|
rs898388984
|
|
NM_025099.6(CTC1):c.810G>A (p.Val270=)
|
|
|
NM_025099.6(CTC1):c.822C>T (p.Ala274=)
|
|
|
NM_025099.6(CTC1):c.849G>C (p.Leu283=)
|
rs2151523972
|
|
NM_025099.6(CTC1):c.903C>G (p.Thr301=)
|
|
|
NM_025099.6(CTC1):c.903C>T (p.Thr301=)
|
rs1597385951
|
|
NM_025099.6(CTC1):c.939A>G (p.Glu313=)
|
|
|
NM_025099.6(CTC1):c.972A>G (p.Gly324=)
|
|
|
NM_025099.6(CTC1):c.979T>C (p.Leu327=)
|
rs1987705280
|
|